about
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationSynaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3Multiple rare variants in the etiology of autism spectrum disordersStriatal Circuits as a Common Node for Autism PathophysiologyInduced pluripotent stem cells for modeling neurological disordersSomatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsNeural selectivity for communicative auditory signals in Phelan-McDermid syndrome.Growth in Phelan-McDermid syndromePhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoringA patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 regionUsing mouse models of autism spectrum disorders to study the neurotoxicology of gene-environment interactionsSociability and motor functions in Shank1 mutant miceBehavioural phenotyping assays for mouse models of autismZinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Molecular handoffs in nitrergic neurotransmissionSynaptic proteins and receptors defects in autism spectrum disordersPhelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Absence of strong strain effects in behavioral analyses of Shank3-deficient miceReduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant miceNeuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and AutismStrategies to develop putative biomarkers to characterize the female phenotype with autism spectrum disorders.High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disabilityNeurogenetics: advancing the "next-generation" of brain research.Infantile hydrocephalus: a review of epidemiology, classification and causes.Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotypeSynaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activityEvaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathwaysAnalysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autismProspective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.Application of array-based comparative genomic hybridization to pediatric neurologic diseases
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականին հրատարակուած գիտական յօդուած
@hyw
2008 թվականին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Deletion 22q13.3 syndrome
@ast
Deletion 22q13.3 syndrome
@en
Deletion 22q13.3 syndrome
@en-gb
Deletion 22q13.3 syndrome
@nl
type
label
Deletion 22q13.3 syndrome
@ast
Deletion 22q13.3 syndrome
@en
Deletion 22q13.3 syndrome
@en-gb
Deletion 22q13.3 syndrome
@nl
prefLabel
Deletion 22q13.3 syndrome
@ast
Deletion 22q13.3 syndrome
@en
Deletion 22q13.3 syndrome
@en-gb
Deletion 22q13.3 syndrome
@nl
P2860
P356
P1476
Deletion 22q13.3 syndrome
@en
P2093
Mary C Phelan
P2860
P2888
P356
10.1186/1750-1172-3-14
P407
P577
2008-01-01T00:00:00Z
P5875
P6179
1020195401